Spotlight on cancer genetics

Actress' plight boosts profile on mutation

In the high-profile world of breast cancer advocacy, women with a hereditary predisposition to the disease often feel overlooked.

That's why it meant so much when actress Christina Applegate acknowledged last month that she has a genetic mutation known as BRCA1 linked to breast and ovarian cancer.

Applegate, 36, went further, disclosing that she had had both breasts surgically removed. The actress' mother has battled cancer twice and "I just wanted to kind of be rid of it," she said on "Good Morning America."

At a distance, an online community of people with BRCA mutations buzzed with empathy and excitement. They're hosted by FORCE (Facing Our Risk of Cancer Empowered, facingourrisk.org), an organization devoted to people with the mutations."Christina, thank you so much," wrote "Meg" on the FORCE message board. "Not only will more women get tested and treated and lives will be saved ... more people will have a better understanding of what we are going through."

"It's like she's a sister," said FORCE founder Sue Friedman of Tampa, who claims a mailing list of 8,000. She created the group in 1999, three years after being diagnosed with breast cancer at age 33. There was no history of breast cancer in her family.

Friedman recalled that nine months after her diagnosis, she casually picked up a magazine with an article on breast cancer and the BRCA mutation.The article described how women were at heightened risk for hereditary cancer if they'd suffered the illness in young adulthood, had other family members with breast, ovarian or pancreatic cancer, and were of Ashkenazi Jewish origins.

"I was like, oh my God, that's me," said Friedman, who's Jewish and whose father's mother had died of cancer, also at a young age.

The next thought was stunning. "Why didn't my doctors tell me?" Friedman said, remembering the experience. Since then, she says, she has spoken with many other women whose doctors did not tell them they were at risk.That's unfortunate. If a woman has the BRCA1 or BRCA2 mutation, her lifetime risk of getting breast cancer jumps to between 36 percent and 85 percent, compared with a 13.2 percent lifetime risk for other women, according to the National Cancer Institute.

Overall, 5 percent to 10 percent of 192,000 American women who discover they have breast cancer each year have a hereditary version of the disease.

Women with BRCA mutations also have a much higher lifetime risk of getting ovarian cancer: 16 percent to 60 percent, compared with a 1.7 percent risk for other women, the Cancer Institute reports.

Taking charge

Inevitably, these women wonder if there's anything they can do to forestall cancer. The answer is yes: They can have their ovaries and breasts removed, preventively. But making this decision and living with the consequences is excruciating.

These women generally are younger than typical breast cancer patients, and many are thinking about getting pregnant. "What if I have children and pass the mutation on to them?" is a frequently expressed concern.

Some women feel the genetic mutation is a defect, a source of distress. "I felt there's something horribly wrong with me, even though no one can see it," said Sheila Saxe, 61, who lives outside Hartford, Conn., and learned she had the BRCA1 mutation two years ago.

Saxe's grandfather had four sisters; all died of ovarian cancer.

One of those sisters, Lillian Bernstein, passed away at 53. Her daughter Helen Goldberg died of breast cancer at 44, according to relatives. Goldberg's daughter, Risa Seiler, formerly of Glen Ellyn, succumbed to ovarian cancer in January 2007, almost 30 years after surviving breast cancer.

Soon after discovering she had ovarian cancer, Seiler had turned to her daughter Heather Fineman of Highland Park to help her do research on the Internet. As soon as they Googled breast and ovarian cancer, red flags began to appear.

Seiler had suffered both, she was an Ashkenazi Jew and there was extensive cancer history in the family.

But her doctors had never suggested she get a test for the BRCA mutation.

She did and discovered she was positive. Fineman had the test soon thereafter, learning she had the mutation too. Within six months, Fineman had her ovaries removed, a somewhat easier decision for her because she already had two young children and didn't have plans for more.

Getting tested

Both Fineman and FORCE's Friedman believe women should talk with their doctors if they're concerned about having this test. It's not warranted for all women who might be concerned about breast cancer, only for those with specific risk factors for the mutation.

In May 2007, at a FORCE conference in Florida, surrounded by women struggling with the same medical and emotional issues, Fineman and her sister Charlotte Seiler took the next step. Seiler, then 31, put aside her fear and decided to get tested for the BRCA1 mutation, which she didn't have. Fineman, then 36, went on to have both her breasts removed and surgically reconstructed in New York.

"It was time for me to do something proactive and not follow the same fate as the women in my family," she said. "And for that I thank my mom."